Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad

• Main Authors: Liqing Wang (Author), Jianwei Li (Author), Qiuhong Xiong (Author), Yong-An Zhou (Author), Ping Li (Author), Changxin Wu (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-04-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

BackgroundDyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 (DKC1) is responsible for 4.6% of the DC with an X-linked inheritance patter...